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N6AMT2 Gene

protein-coding   GIFtS: 49
GCID: GC13M021308

N-6 Adenine-Specific DNA Methyltransferase 2 (Putative)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-6 Adenine-Specific DNA Methyltransferase 2 (Putative)1 2
ESP132
N(6)-Adenine-Specific DNA Methyltransferase 22
EC 2.1.1.-3
EC 2.1.18

External Ids:    HGNC: 273511   Entrez Gene: 2211432   Ensembl: ENSG000001504567   UniProtKB: Q8WVE03   

Export aliases for N6AMT2 gene to outside databases

Previous GC identifers: GC13M020200 GC13M021296 GC13M002106 GC13M021304


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for N6AMT2 Gene:
N6AMT2 (N-6 adenine-specific DNA methyltransferase 2 (putative)) is a protein-coding gene. GO annotations related to this gene include methyltransferase activity and nucleic acid binding.

UniProtKB/Swiss-Prot: N6MT2_HUMAN, Q8WVE0
Function: Putative DNA methyltransferase (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the N6AMT2 gene promoter:
         AML1a   POU6F1 (c2)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   YY1   FOXO4   FOXJ2 (long isoform)   FOXJ2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidN6AMT2 promoter sequence
   Search Chromatin IP Primers for N6AMT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat N6AMT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.11   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q12.11

N6AMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
N6AMT2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M021308:  view genomic region     (about GC identifiers)

Start:
21,302,870 bp from pter      End:
21,348,097 bp from pter
Size:
45,228 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: N6MT2_HUMAN, Q8WVE0 (See protein sequence)
Recommended Name: N(6)-adenine-specific DNA methyltransferase 2  
Size: 214 amino acids; 24506 Da
Secondary accessions: B5G4V1

Explore the universe of human proteins at neXtProt for N6AMT2: NX_Q8WVE0

Explore proteomics data for N6AMT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys88, Lys164
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for N6AMT2 (Q8WVE0)
     LLCTGAIME  SAPSVYQKL 


    See N6AMT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_777588.1  
    ENSEMBL proteins: 
     ENSP00000372206   ENSP00000372202  

    N6AMT2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for N6AMT2

     
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    antibodies-online proteins for N6AMT2 (5 products) 

     
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    antibodies-online kits for N6AMT2 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002052 DNA_methylase_N6_adenine_CS
     IPR019369 N6_adenine_Mtase-rel_euk

    Graphical View of Domain Structure for InterPro Entry Q8WVE0

    ProtoNet protein and cluster: Q8WVE0

    1 Blocks protein domain: IPB002052 N-6 Adenine-specific DNA methylase

    UniProtKB/Swiss-Prot: N6MT2_HUMAN, Q8WVE0
    Similarity: Belongs to the methyltransferase superfamily. AML1 family


    Find genes that share domains with N6AMT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: N6MT2_HUMAN, Q8WVE0
    Function: Putative DNA methyltransferase (By similarity)

         Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0008168methyltransferase activity IEA--
         
    Find genes that share ontologies with N6AMT2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for N6AMT2:
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for N6amt2):
     no phenotypic analysis 

    Find genes that share phenotypes with N6AMT2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for N6AMT2

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidN6AMT2 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat N6AMT2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N6AMT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton1
    extracellular1
    nucleus1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for N6AMT2
    Interactions:

        Search GeneGlobe Interaction Network for N6AMT2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5 Interacting proteins for N6AMT2 (Q8WVE03 ENSP000003722024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT5Q929933I2D: score=1 
    MARK2Q7KZI73I2D: score=1 
    NARSO437763I2D: score=1 
    PRMT1Q998733I2D: score=1 
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for N6AMT2 (N6MT2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for N6AMT2 gene: 
    NM_174928.1  

    Unigene Cluster for N6AMT2:

    N-6 adenine-specific DNA methyltransferase 2 (putative)
    Hs.26674  [show with all ESTs]
    Unigene Representative Sequence: BG403594
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382758(uc009zzr.1 uc001unp.2) ENST00000382754(uc001uno.1)
    ENST00000460374
    miRNA
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    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat N6AMT2
      QuantiTect SYBR Green Assays in human, mouse, rat N6AMT2
      QuantiFast Probe-based Assays in human, mouse, rat N6AMT2

    Additional mRNA sequence: 

    AK316604.1 BC018091.1 DQ823637.1 

    6 DOTS entries:

    DT.212371  DT.100020686  DT.120764848  DT.95215223  DT.86845889  DT.86849553 

    Selected AceView cDNA sequences (see all 89):

    AA328362 BF445318 CB242633 CB305681 CB242296 CN479116 AW295675 AI669197 
    CA312613 BM694587 AA705409 AA742306 AA292535 CA431429 AW450897 BU730996 
    AI085345 AI755175 AK055408 BE221713 BX113581 AA284407 CF454974 CR595343 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for N6AMT2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:                                -               
    SP2:        -                                       
    SP3:                    -           -               
    SP4:        -           -                           


    ECgene alternative splicing isoforms for N6AMT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    N6AMT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGAACAGG
    N6AMT2 Expression
    About this image

    N6AMT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    N6AMT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26674
        Custom PCR Arrays for N6AMT2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N6AMT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for N6AMT2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia N6amt21 , 5 N-6 adenine-specific DNA methyltransferase 2 (putative)1, 5 80.82(n)1
    82.55(a)1
      14 (30.10 cM)5
    680431  NM_026526.21  NP_080802.11 
     575495985 
    chicken
    (Gallus gallus)
    Aves N6AMT21 N-6 adenine-specific DNA methyltransferase 2 (putative) 74(n)
    72.73(a)
      418951  NM_001006277.1  NP_001006277.1 
    lizard
    (Anolis carolinensis)
    Reptilia N6AMT26
    N-6 adenine-specific DNA methyltransferase 2 (puta...
    67(a)
    1 ↔ 1
    3(187534926-187548136)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA974251.12   -- 77.06(n)    CA974251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii n6amt21 N-6 adenine-specific DNA methyltransferase 2 (putative) 66.46(n)
    68.32(a)
      404619  NM_207087.1  NP_996970.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91541 CG9154 51.99(n)
    44.04(a)
      33858  NM_135149.3  NP_608993.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_M142.81 CELE_M142.8 54.58(n)
    49.51(a)
      176524  NM_001268162.1  NP_001255091.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YGR001C)4
    YGR001C1
    Putative protein of unknown function with similarity more4
    YGR001C1
    51.89(n)1
    44.33(a)1
      7(498034-497133)4
    8528841, 4  NP_011515.41  NP_011515.24 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G584701 AT3G58470 53.11(n)
    45.45(a)
      825016  NM_115709.1  NP_567065.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07499001 Os03g0749900 48.09(n)
    44.78(a)
      4334118  NM_001057814.1  NP_001051279.1 


    ENSEMBL Gene Tree for N6AMT2 (if available)
    TreeFam Gene Tree for N6AMT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for N6AMT2 (see all 1046)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429897911,2
    --21302578(+) CACTCA/GTCCCA 1 -- int10--------
    rs1820510941,2
    --21302896(+) AAGGTC/TCTGTC 1 -- int10--------
    rs1869066931,2
    --21303077(+) AAGATC/TGCACA 1 -- ut310--------
    rs734352691,2
    C--21303144(+) TATAAC/TTTTTA 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1901478511,2
    C--21303283(+) AGTTCC/TGGGTG 2 Q R mis10--------
    rs115498101,2,,4
    C,H--21303286(+) TCCGGA/G/TTGTGT 3 N T I mis1 ese36NS EA NA 404
    rs2011912561,2
    C--21303335(+) TGCTGC/TCTGTT 2 T A mis11Minor allele frequency- T:0.00EU 1323
    rs784928971,2
    C,F--21303389(+) AGAGTG/TACAAC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs286231761,2
    C--21303627(+) ATTATG/ACACAC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs341782971,2
    C--21303627(+) TTATA-/AC/C  
            
    CACAC
    1 -- int10--------

    HapMap Linkage Disequilibrium report for N6AMT2 (21302870 - 21348097 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for N6AMT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv951CNV Insertion18451855
    nsv832558CNV Loss17160897
    dgv6e24CNV Gain17666407

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for N6AMT2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with N6AMT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcriptome analysis of a cDNA library from adult human epididymis. (PubMed id 18390568)1, 2 Li J.Y.... Zhang Y.L. (DNA Res. 2008)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221143 HGNC: 27351 AceView: LOC221143 Ensembl:ENSG00000150456 euGenes: HUgn221143
    ECgene: N6AMT2 H-InvDB: N6AMT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for N6AMT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for N6AMT2 gene:
    Search GeneIP for patents involving N6AMT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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